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Q49MI3

- CERKL_HUMAN

UniProt

Q49MI3 - CERKL_HUMAN

Protein

Ceramide kinase-like protein

Gene

CERKL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 1 (13 Sep 2005)
      Previous versions | rss
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    Functioni

    Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.2 Publications

    GO - Molecular functioni

    1. diacylglycerol kinase activity Source: InterPro
    2. NAD+ kinase activity Source: InterPro

    GO - Biological processi

    1. negative regulation of apoptotic process Source: UniProtKB
    2. protein kinase C-activating G-protein coupled receptor signaling pathway Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ceramide kinase-like protein
    Gene namesi
    Name:CERKL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:21699. CERKL.

    Subcellular locationi

    Cytoplasm. Nucleusnucleolus
    Note: Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. endoplasmic reticulum Source: UniProtKB
    3. Golgi apparatus Source: UniProtKB
    4. nucleolus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Endoplasmic reticulum, Golgi apparatus, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Retinitis pigmentosa 26 (RP26) [MIM:608380]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti106 – 1061R → S in RP26. 1 Publication
    VAR_065182

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi104 – 1063KRR → GGG: Only cytoplasmic. 1 Publication
    Mutagenesisi260 – 2601G → D: Loss of nuclear localization; in isoform 2. 2 Publications

    Keywords - Diseasei

    Disease mutation, Retinitis pigmentosa

    Organism-specific databases

    MIMi608380. phenotype.
    Orphaneti791. Retinitis pigmentosa.
    PharmGKBiPA134984780.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 558558Ceramide kinase-like proteinPRO_0000181356Add
    BLAST

    Post-translational modificationi

    Phosphorylated on serine residues.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ49MI3.
    PRIDEiQ49MI3.

    PTM databases

    PhosphoSiteiQ49MI3.

    Expressioni

    Tissue specificityi

    Isoform 1 and isoform 2 are expressed in adult retina, liver and pancreas as well as in fetal brain, lung and kidney. Isoform 3 is expressed in adult retina as well as in fetal lung and liver. Isoform 4 is expressed in adult retina, lung and kidney as well as in fetal lung and liver. Moderately expressed in retina, kidney, lung, testis, trachea, and pancreas. Weakly expressed in brain, placenta and liver.3 Publications

    Developmental stagei

    Expressed in fetal lung, kidney and brain.1 Publication

    Gene expression databases

    ArrayExpressiQ49MI3.
    BgeeiQ49MI3.
    GenevestigatoriQ49MI3.

    Organism-specific databases

    HPAiHPA035444.

    Structurei

    3D structure databases

    ProteinModelPortaliQ49MI3.
    SMRiQ49MI3. Positions 160-550.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini164 – 339176DAGKcPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi2 – 98Nuclear localization signal 1Sequence Analysis
    Motifi102 – 1065Nuclear localization signal 2

    Sequence similaritiesi

    Contains 1 DAGKc domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG296399.
    HOGENOMiHOG000231784.
    HOVERGENiHBG102265.
    InParanoidiQ49MI3.
    OMAiPWNVDGD.
    OrthoDBiEOG78D7JT.
    PhylomeDBiQ49MI3.
    TreeFamiTF314514.

    Family and domain databases

    InterProiIPR016064. ATP-NAD_kinase_PpnK-typ.
    IPR001206. Diacylglycerol_kinase_cat_dom.
    [Graphical view]
    PfamiPF00781. DAGK_cat. 1 hit.
    [Graphical view]
    SUPFAMiSSF111331. SSF111331. 2 hits.
    PROSITEiPS50146. DAGK. 1 hit.
    [Graphical view]

    Sequences (8)i

    Sequence statusi: Complete.

    This entry describes 8 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q49MI3-1) [UniParc]FASTAAdd to Basket

    Also known as: b

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MPWRRRRNRV SALEGGREEE APPEAAAVPP ALLTSPQQTE AAAERILLRG    50
    IFEIGRDSCD VVLSERALRW RPIQPERPAG DSKYDLLCKE EFIELKDIFS 100
    VKLKRRCSVK QQRSGTLLGI TLFICLKKEQ NKLKNSTLDL INLSEDHCDI 150
    WFRQFKKILA GFPNRPKSLK ILLNPQSHKK EATQVYYEKV EPLLKLAGIK 200
    TDVTIMEYEG HALSLLKECE LQGFDGGHRK PLFAIHWSVQ RLFTGMQTLE 250
    PSVVCVGGDG SASEVAHALL LRAQKNAGME TDRILTPVRA QLPLGLIPAG 300
    STNVLAHSLH GVPHVITATL HIIMGHVQLV DVCTFSTAGK LLRFGFSAMF 350
    GFGGRTLALA EKYRWMSPNQ RRDFAVVKAL AKLKAEDCEI SFLPFNSSDD 400
    VQERRAQGSP KSDCNDQWQM IQGQFLNVSI MAIPCLCSVA PRGLAPNTRL 450
    NNGSMALIIA RNTSRPEFIK HLKRYASVKN QFNFPFVETY TVEEVKVHPR 500
    NNTGGYNPEE EEDETASENC FPWNVDGDLM EVASEVHIRL HPRLISLYGG 550
    SMEEMIPK 558
    Length:558
    Mass (Da):62,622
    Last modified:September 13, 2005 - v1
    Checksum:i305B6BB82CE977CB
    GO
    Isoform 2 (identifier: Q49MI3-2) [UniParc]FASTAAdd to Basket

    Also known as: a

    The sequence of this isoform differs from the canonical sequence as follows:
         227-252: Missing.

    Show »
    Length:532
    Mass (Da):59,603
    Checksum:iC73E590F7C25EED1
    GO
    Isoform 3 (identifier: Q49MI3-3) [UniParc]FASTAAdd to Basket

    Also known as: d

    The sequence of this isoform differs from the canonical sequence as follows:
         205-300: IMEYEGHALS...QLPLGLIPAG → R

    Show »
    Length:463
    Mass (Da):52,445
    Checksum:i36F0E7DC8396890A
    GO
    Isoform 4 (identifier: Q49MI3-4) [UniParc]FASTAAdd to Basket

    Also known as: c

    The sequence of this isoform differs from the canonical sequence as follows:
         160-298: Missing.

    Show »
    Length:419
    Mass (Da):47,370
    Checksum:i26CAF6FA94820DF0
    GO
    Isoform 5 (identifier: Q49MI3-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         227-252: Missing.
         405-558: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:378
    Mass (Da):42,209
    Checksum:i2372D50CA3BA00EA
    GO
    Isoform 7 (identifier: Q49MI3-7) [UniParc]FASTAAdd to Basket

    Also known as: f

    The sequence of this isoform differs from the canonical sequence as follows:
         205-217: IMEYEGHALSLLK → MLSVLVEMDLLAK
         218-558: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:217
    Mass (Da):24,836
    Checksum:iCA3A37FC7F29CF7A
    GO
    Isoform 8 (identifier: Q49MI3-8) [UniParc]FASTAAdd to Basket

    Also known as: e

    The sequence of this isoform differs from the canonical sequence as follows:
         161-173: GFPNRPKSLKILL → VLSVLVEMDLLAK
         174-558: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:173
    Mass (Da):19,828
    Checksum:i184DD8A7AF71BF41
    GO
    Isoform 9 (identifier: Q49MI3-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         161-205: GFPNRPKSLKILLNPQSHKKEATQVYYEKVEPLLKLAGIKTDVTI → V

    Show »
    Length:514
    Mass (Da):57,632
    Checksum:i012117C9A56696B1
    GO

    Sequence cautioni

    The sequence CAG26980.1 differs from that shown. Reason: Frameshift at several positions.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti129 – 1291E → D in CAG26980. (PubMed:15708351)Curated
    Sequence conflicti178 – 1781H → R in CAG26978. (PubMed:15708351)Curated
    Sequence conflicti210 – 2101G → E in CAG26977. (PubMed:15708351)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti106 – 1061R → S in RP26. 1 Publication
    VAR_065182
    Natural varianti232 – 2321L → F.
    Corresponds to variant rs10185262 [ dbSNP | Ensembl ].
    VAR_053688
    Natural varianti514 – 5141E → G.
    Corresponds to variant rs35955809 [ dbSNP | Ensembl ].
    VAR_053689

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei160 – 298139Missing in isoform 4. 1 PublicationVSP_016653Add
    BLAST
    Alternative sequencei161 – 20545GFPNR…TDVTI → V in isoform 9. 1 PublicationVSP_042663Add
    BLAST
    Alternative sequencei161 – 17313GFPNR…LKILL → VLSVLVEMDLLAK in isoform 8. 2 PublicationsVSP_016654Add
    BLAST
    Alternative sequencei174 – 558385Missing in isoform 8. 2 PublicationsVSP_016655Add
    BLAST
    Alternative sequencei205 – 30096IMEYE…LIPAG → R in isoform 3. 1 PublicationVSP_016656Add
    BLAST
    Alternative sequencei205 – 21713IMEYE…LSLLK → MLSVLVEMDLLAK in isoform 7. 3 PublicationsVSP_016657Add
    BLAST
    Alternative sequencei218 – 558341Missing in isoform 7. 3 PublicationsVSP_016658Add
    BLAST
    Alternative sequencei227 – 25226Missing in isoform 2 and isoform 5. 3 PublicationsVSP_016659Add
    BLAST
    Alternative sequencei405 – 558154Missing in isoform 5. 1 PublicationVSP_016660Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY357073 mRNA. Translation: AAR13670.1.
    AY690329 mRNA. Translation: AAW47988.1.
    AY690330 mRNA. Translation: AAW47989.1.
    AY690331 mRNA. Translation: AAW47990.1.
    AY690332 mRNA. Translation: AAW47991.1.
    AY690333 mRNA. Translation: AAW47992.1.
    AJ640141 mRNA. Translation: CAG26695.1.
    AJ697855 mRNA. Translation: CAG26977.1.
    AJ697856 mRNA. Translation: CAG26978.1.
    AJ697858 mRNA. Translation: CAG26980.1. Frameshift.
    AK129976 mRNA. Translation: BAC85266.1. Sequence problems.
    AK293844 mRNA. Translation: BAG57242.1.
    AC013733 Genomic DNA. No translation available.
    AC020595 Genomic DNA. No translation available.
    BC137498 mRNA. Translation: AAI37499.1.
    BC137499 mRNA. Translation: AAI37500.1.
    CCDSiCCDS33340.1. [Q49MI3-4]
    CCDS33341.1. [Q49MI3-3]
    CCDS42789.1. [Q49MI3-1]
    CCDS46466.1. [Q49MI3-2]
    CCDS54425.1. [Q49MI3-9]
    RefSeqiNP_001025482.1. NM_001030311.2. [Q49MI3-1]
    NP_001025483.1. NM_001030312.2. [Q49MI3-4]
    NP_001025484.1. NM_001030313.2. [Q49MI3-3]
    NP_001153749.1. NM_001160277.1. [Q49MI3-9]
    NP_963842.1. NM_201548.4. [Q49MI3-2]
    UniGeneiHs.732358.

    Genome annotation databases

    EnsembliENST00000339098; ENSP00000341159; ENSG00000188452. [Q49MI3-1]
    ENST00000374967; ENSP00000364106; ENSG00000188452. [Q49MI3-7]
    ENST00000374969; ENSP00000364108; ENSG00000188452. [Q49MI3-4]
    ENST00000374970; ENSP00000364109; ENSG00000188452. [Q49MI3-3]
    ENST00000409440; ENSP00000387080; ENSG00000188452. [Q49MI3-9]
    ENST00000410087; ENSP00000386725; ENSG00000188452. [Q49MI3-2]
    ENST00000421817; ENSP00000411466; ENSG00000188452. [Q49MI3-8]
    ENST00000452174; ENSP00000409198; ENSG00000188452. [Q49MI3-8]
    GeneIDi375298.
    KEGGihsa:375298.
    UCSCiuc002unx.3. human. [Q49MI3-1]
    uc002uny.3. human. [Q49MI3-2]
    uc002uoa.3. human. [Q49MI3-3]
    uc002uoc.3. human. [Q49MI3-4]
    uc002uoe.3. human. [Q49MI3-5]
    uc010zfm.2. human. [Q49MI3-9]

    Polymorphism databases

    DMDMi84028814.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY357073 mRNA. Translation: AAR13670.1 .
    AY690329 mRNA. Translation: AAW47988.1 .
    AY690330 mRNA. Translation: AAW47989.1 .
    AY690331 mRNA. Translation: AAW47990.1 .
    AY690332 mRNA. Translation: AAW47991.1 .
    AY690333 mRNA. Translation: AAW47992.1 .
    AJ640141 mRNA. Translation: CAG26695.1 .
    AJ697855 mRNA. Translation: CAG26977.1 .
    AJ697856 mRNA. Translation: CAG26978.1 .
    AJ697858 mRNA. Translation: CAG26980.1 . Frameshift.
    AK129976 mRNA. Translation: BAC85266.1 . Sequence problems.
    AK293844 mRNA. Translation: BAG57242.1 .
    AC013733 Genomic DNA. No translation available.
    AC020595 Genomic DNA. No translation available.
    BC137498 mRNA. Translation: AAI37499.1 .
    BC137499 mRNA. Translation: AAI37500.1 .
    CCDSi CCDS33340.1. [Q49MI3-4 ]
    CCDS33341.1. [Q49MI3-3 ]
    CCDS42789.1. [Q49MI3-1 ]
    CCDS46466.1. [Q49MI3-2 ]
    CCDS54425.1. [Q49MI3-9 ]
    RefSeqi NP_001025482.1. NM_001030311.2. [Q49MI3-1 ]
    NP_001025483.1. NM_001030312.2. [Q49MI3-4 ]
    NP_001025484.1. NM_001030313.2. [Q49MI3-3 ]
    NP_001153749.1. NM_001160277.1. [Q49MI3-9 ]
    NP_963842.1. NM_201548.4. [Q49MI3-2 ]
    UniGenei Hs.732358.

    3D structure databases

    ProteinModelPortali Q49MI3.
    SMRi Q49MI3. Positions 160-550.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q49MI3.

    Polymorphism databases

    DMDMi 84028814.

    Proteomic databases

    PaxDbi Q49MI3.
    PRIDEi Q49MI3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000339098 ; ENSP00000341159 ; ENSG00000188452 . [Q49MI3-1 ]
    ENST00000374967 ; ENSP00000364106 ; ENSG00000188452 . [Q49MI3-7 ]
    ENST00000374969 ; ENSP00000364108 ; ENSG00000188452 . [Q49MI3-4 ]
    ENST00000374970 ; ENSP00000364109 ; ENSG00000188452 . [Q49MI3-3 ]
    ENST00000409440 ; ENSP00000387080 ; ENSG00000188452 . [Q49MI3-9 ]
    ENST00000410087 ; ENSP00000386725 ; ENSG00000188452 . [Q49MI3-2 ]
    ENST00000421817 ; ENSP00000411466 ; ENSG00000188452 . [Q49MI3-8 ]
    ENST00000452174 ; ENSP00000409198 ; ENSG00000188452 . [Q49MI3-8 ]
    GeneIDi 375298.
    KEGGi hsa:375298.
    UCSCi uc002unx.3. human. [Q49MI3-1 ]
    uc002uny.3. human. [Q49MI3-2 ]
    uc002uoa.3. human. [Q49MI3-3 ]
    uc002uoc.3. human. [Q49MI3-4 ]
    uc002uoe.3. human. [Q49MI3-5 ]
    uc010zfm.2. human. [Q49MI3-9 ]

    Organism-specific databases

    CTDi 375298.
    GeneCardsi GC02M182401.
    GeneReviewsi CERKL.
    HGNCi HGNC:21699. CERKL.
    HPAi HPA035444.
    MIMi 608380. phenotype.
    608381. gene.
    neXtProti NX_Q49MI3.
    Orphaneti 791. Retinitis pigmentosa.
    PharmGKBi PA134984780.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG296399.
    HOGENOMi HOG000231784.
    HOVERGENi HBG102265.
    InParanoidi Q49MI3.
    OMAi PWNVDGD.
    OrthoDBi EOG78D7JT.
    PhylomeDBi Q49MI3.
    TreeFami TF314514.

    Miscellaneous databases

    GenomeRNAii 375298.
    NextBioi 100456.
    PROi Q49MI3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q49MI3.
    Bgeei Q49MI3.
    Genevestigatori Q49MI3.

    Family and domain databases

    InterProi IPR016064. ATP-NAD_kinase_PpnK-typ.
    IPR001206. Diacylglycerol_kinase_cat_dom.
    [Graphical view ]
    Pfami PF00781. DAGK_cat. 1 hit.
    [Graphical view ]
    SUPFAMi SSF111331. SSF111331. 2 hits.
    PROSITEi PS50146. DAGK. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26)."
      Tuson M., Marfany G., Gonzalez-Duarte R.
      Am. J. Hum. Genet. 74:128-138(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 7 AND 8), INVOLVEMENT IN RP26, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
      Tissue: Retina.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 5; 7 AND 8), FUNCTION, TISSUE SPECIFICITY, PHOSPHORYLATION, SUBCELLULAR LOCATION, MUTAGENESIS OF GLY-260.
      Tissue: Brain.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 9), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 199-558 (ISOFORM 7).
      Tissue: Kidney.
    4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    6. "Subcellular localization of ceramide kinase and ceramide kinase-like protein requires interplay of their Pleckstrin Homology domain-containing N-terminal regions together with C-terminal domains."
      Rovina P., Schanzer A., Graf C., Mechtcheriakova D., Jaritz M., Bornancin F.
      Biochim. Biophys. Acta 1791:1023-1030(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF 104-LYS--ARG-106.
    7. "Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress."
      Tuson M., Garanto A., Gonzalez-Duarte R., Marfany G.
      Mol. Vis. 15:168-180(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    8. "A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration."
      Ali M., Ramprasad V.L., Soumittra N., Mohamed M.D., Jafri H., Rashid Y., Danciger M., McKibbin M., Kumaramanickavel G., Inglehearn C.F.
      Mol. Vis. 14:1960-1964(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP26 SER-106.

    Entry informationi

    Entry nameiCERKL_HUMAN
    AccessioniPrimary (citable) accession number: Q49MI3
    Secondary accession number(s): B2RPL2
    , B4DEY1, Q49MH9, Q49MI0, Q49MI1, Q49MI2, Q5DVJ2, Q5DVJ4, Q5DVJ5, Q6UZF6, Q6ZP59
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 20, 2005
    Last sequence update: September 13, 2005
    Last modified: October 1, 2014
    This is version 86 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3